Product Details

SNP ID
rs138746814
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:17181932 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GACAAGCCTTTGGCACCAAACATAG[C/T]TGGGTCATCAGAGCTGATCACCATG
Phenotype
MIM: 607575
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CECR1 PubMed Links

Gene Details

Gene
CECR1
Gene Name
cat eye syndrome chromosome region, candidate 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282225.1 1481 Missense Mutation ACT,GCT T444A NP_001269154.1
NM_001282226.1 1481 Missense Mutation ACT,GCT T444A NP_001269155.1
NM_001282227.1 1481 Missense Mutation ACT,GCT T402A NP_001269156.1
NM_001282228.1 1481 Missense Mutation ACT,GCT T402A NP_001269157.1
NM_001282229.1 1481 Missense Mutation ACT,GCT T324A NP_001269158.1
NM_177405.2 1481 Missense Mutation ACT,GCT T203A NP_803124.1
XM_006724080.3 1481 Missense Mutation ACT,GCT T216A XP_006724143.1
XM_011546133.1 1481 Missense Mutation ACT,GCT T444A XP_011544435.1

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